41. Canavan Disease - Wikipedia, The Free Encyclopedia canavan disease, also known as Van BogaertBertrand disease is a rare, inherited, canavan disease is one of a group of genetic disorders called the http://en.wikipedia.org/wiki/Canavan_disease

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Canavan disease From Wikipedia, the free encyclopedia. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European Ashkenazi Jewish ancestry are carriers, about 1:10,000. Canavan disease is inherited in an autosomal recessive fashion. cted child. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers. Canavan disease disease is inherited in an autosomal recessive fashion. Canavan disease is caused by a defective ASPA gene, responsible for the production of the enzyme aspartoacylase . This enzyme breaks down the n-acetyl-asparate acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in n-acetyl-aspartate, which interferes with growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the

42. Jacob's Cure...A Fight Against Canavan Disease http://www.jacobscure.org/

43. Einstein - Canavan Disease canavan disease is a severe degenerative disease of the central nervous system. Most children with canavan disease appear normal at birth. http://www.einstein.edu/yourhealth/genetic/jewishgenetic/article8412.html

Network Home Employment Contact Us Search How Can We Help You? FIND .. .. A Physician .. Physician Referral .. An Einstein Facility .. Directions .. Health Information .. Patient/Visitor Info .. Patient Privacy .. Events .. Support Groups .. Employment .. Residency Programs TOOLS .. .. Site Search .. Site Index .. Site Help .. Contact Us ABOUT US .. .. Quality Healthcare .. Make a Difference .. About Us Your Health EINSTEIN HEALTH TOPICS .. Behavioral Health .. Cancer .. Diabetes .. Digestive Health .. Geriatric Services .. Genetic Services .. Heart Health .. Jewish Genetic Diseases .. Kidney/Pancreas .. Liver .. Medical Rehab .. Mental Health .. Neonatology .. Neurosurgery .. Older Adults .. Orthopaedics .. Physical Disabilities .. Primary Care .. Smoking Cessation .. Travel Health .. Weight Loss Surgery .. Women's Health HEALTH LIBRARY .. Conditions inFull .. Procedures inBrief .. Weekly Health Journals INTERACTIVE TOOLS .. Self-Assessment Tools .. Drug Database Canavan disease is a severe degenerative disease of the central nervous system. Most children with Canavan disease appear normal at birth. It is not until three to five months of age that their parents might notice subtle differences in the child. For instance, the child may be unable to perform motor tasks, such as rolling over. Grasping and visual inattentiveness or tremors are frequently noted. These children eventually become blind and have problems with swallowing. They frequently die in childhood but may live into adolescence or even early adulthood.

44. Dr. Koop - Canavan Disease canavan disease is an inherited disorder of metabolism. It is characterized by degeneration of the . http://www.drkoop.com/ency/93/001586.html

Home Health Reference Canavan disease Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Canavan disease Injury Disease Nutrition Poison ... Prevention Canavan disease Definition: Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Alternative Names: Spongy degeneration of the brain; Aspartoacylase deficiency Causes, incidence, and risk factors: Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including poor muscle tone and lack of head control. Eventually, the child can develop feeding problems, seizures, and loss of vision. Although death often occurs before 18 months of age, some live until they are teenagers or, rarely, young adults.

45. Canavan Disease: Information From Answers.com canavan disease A severe progressive inherited (genetic) disorder of the central nervous system (CNS) http://www.answers.com/topic/canavan-disease-1

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical Term Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Canavan disease Medical Term Canavan disease A severe progressive inherited (genetic) disorder of the central nervous system (CNS). The signs of Canavan disease usually appear when the children are between 3 and 6 months of age. They include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. As the disease progresses, convulsions (seizures), shrinkage of the nerve to the eye (optic atrophy) and often blondness, heartburn (gastrointestinal reflux) and deterioration of swallowing develop. Most children with Canavan disease die in the first decade of life. There is currently no cure or effective treatment for Canavan disease. Canavan disease is caused by a deficiency of the enzyme aspartoacylase. This leads to increased excretion of a substance (its substrate) called N-acetylaspartic acid (NAA) in the urine. The diagnosis of Canavan disease is made by finding an increased level of urinary NAA (by organic acid analysis). The abnormally high levels of NAA lead to loss of insulation (demyelination) and spongy degeneration of the brain, which cause the ominous signs and symptoms of Canavan disease.

46. Canavan Disease Patent Case canavan disease Patent Case. The Canavan Case is a case study that examines the use of a patent covering the molecular diagnosis of disease. http://www.bioethics.upenn.edu/prog/benefit/canavan.shtml

Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion Canavan Disease Patent Case The Canavan Case is a case study that examines the use of a patent covering the molecular diagnosis of disease. This case has come to symbolize some of the negative effects gene patents may have on the provision of clinical medical services. The case has also caused many to consider the need for benefit sharing as one way for recognizing the contribution of patient groups and families to research and discovery. This essay is abstracted from a longer paper appearing as a chapter entitled Discoveries: Are There Limits on What may be Patented? in Who Owns Life? (Magnus D, Caplan A, McGee G, eds. Amherst NY: Prometheus Books, 2002). The study of this case was supported in part by grants from the Greenwall Foundation, the Charles E. Culpeper Foundation, the NIH, DOE and VA Consortium on Informed Consent Research, and a grant from the Dodge Foundation. I am indebted to Judith Tsipis, Daniel Greenberg, and Orren Alperstein Gelblum for sharing their personal stories and experiences with Canavan disease and the described research project, for actively involving me in their unfolding saga with Miami Children's Hospital, for freely sharing background information on the case, and for reading and commenting on earlier drafts of this manuscript; knowledge about the Canavan disease gene, like this chapter, would not exist but for their contributions. I received an honorarium from the Canavan Foundation for participating in the aforesaid meeting with MCH, and I have agreed to provide

47. Canavan Disease Patient Case After Jonathan failed to thrive, he was diagnosed with canavan disease. Canavan is a recessive genetic disease that will strike on average 1 of 4 children http://www.bioethics.upenn.edu/prog/benefit/canavanA.shtml

Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion The Research In 1981, Dan and Debbie Greenberg had a son, Jonathan. After Jonathan failed to thrive, he was diagnosed with Canavan Disease. Canavan is a recessive genetic disease that will strike on average 1 of 4 children of couples when both parents carry a gene mutation that causes the disease. It is a degenerative spongiform brain disease that irreversibly leads to loss of body control and death, usually before the teen years. [i] There is no cure. In 1983, the Greenbergs had another child, Amy, who, against the odds, also was stricken with the disease. In 1987, Dan Greenberg approached Dr. Reuben Matalon and convinced him to study Canavan Disease. Matalon ran a laboratory performing clinical testing and research of phenylketonuria (PKU) and other familial disorders at the University of Illinois in Chicago. With blood, urine, and other tissue samples provided by the Greenbergs and another family affected by the disease, and “seed money” provided by Greenberg’s Chicago chapter of the National Tay-Sachs and Allied Diseases Association (NTSAD), within a year Matalon identified the deficiency of an enzyme, aspartoacylase, as the cause of Canavan Disease. This was great news, because it offered the possibility of a prenatal screening test.

48. Canavan Disease Definition - Digestion And Digestive-related Information On Medi Digestion information covering the digestion system and related diseases, procedures and tests, medications, and treatments. Produced by doctors. http://www.medterms.com/script/main/art.asp?articlekey=9254

49. Canavan Disease canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the http://my.webmd.com/hw/parenting_news/nord157.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Canavan Disease Important It is possible that the main title of the report Canavan Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms ACY2 Deficiency Aminoacylase-2 Deficiency Aspartoacylase Deficiency Canavan's Leukodystrophy Canavan-Van Bogaert-Bertrand Disease CD Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Neuroaxis Van Bogaert-Bertrand Syndrome ASP Deficiency ASPA Deficiency Disorder Subdivisions None General Discussion Canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). Physician symptoms that appear in early infancy may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally large head (macrocephaly), and/ or irritability. Physical symptoms appear in early infancy and usually progress rapidly. Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. Canavan disease is inherited as an autosomal recessive genetic disorder.

50. Canavan Disease International. Founded 1992. Provides information and education for persons affected by Canavan s. Offers http://my.webmd.com/hw/health_guide_atoz/shc29can.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Canavan Foundation Canavan Disease Canavan Foundation International. Founded 1992. Provides information and education for persons affected by Canavan's. Offers literature, phone support, conferences, and advocacy. Supports research. Online support available. WRITE: Canavan Foundation 450 West End Ave. New York, NY 10024 CALL: 212-873-4640 FAX: 212-873-7892 E-MAIL: info@canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 4/21/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

51. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Canavan Dise canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Read a true story about a child with canavan disease Chicago Family http://www.jewishgeneticscenter.org/what/ashkenazi/canavan.asp

Ashkenazi Disorders: Mendelian Canavan Disease Canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Most children with this disorder appear normal at birth, but lack of this enzyme affects the brain and results in progressive deterioration of the affected child. The disease is life shortening with death typically occurring in the first or second decade of life. No effective treatment is available for this condition at this time. Read a true story about a child with Canavan Disease: Chicago Family Leads Fight Against Canavan Disease By Lisa Lewis, JUF News Disease frequency: 1 in 5,000 in the Jewish population Carrier frequency: 1 in 38 in the Jewish population. Diagnosis: Made by detecting lack of enzyme aspartoacylase in skin cells or by genetic testing of the gene for Canavan disease in blood. Inheritance: Autosomal Recessive Carrier testing: Available through genetic testing of the Canavan gene. Testing can identify about 97% of Ashkenazi Jewish carriers. Prenatal diagnosis: Genetic testing of the Canavan disease gene. This testing is available to those with a previous affected child or to couples found to be at risk by carrier testing.

52. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Canavan Dise Gene The gene responsible for canavan disease is the aspartoacyclase (ASA) gene, Traits canavan disease is a severe neurodegenerative disease http://www.jewishgeneticscenter.org/what/ashkenazi/canavan2.asp

Ashkenazi Disorders: Mendelian Canavan Disease Gene: The gene responsible for Canavan disease is the aspartoacyclase (ASA) gene, which is located at 17pter-p13. Aspartoacyclase hydrolyzes N-acetylaspartic acid (NAA) into aspartic acid and acetate. Its absence in the central nervous system leads to the accumulation of NAA in the brain resulting in demyelination and other symptoms seen in Canavan disease. Mutations and testing: Three common mutations in the ASA gene have been identified: E285A, Y231X, and A305E. Testing for these three mutations leads to a detection rate of ~99% in Ashkenazi Jews for disease-causing alleles and ~50-55% in non-Ashkenazi Jews. Traits: Canavan disease is a severe neurodegenerative disease (progressive leukodystrophy) with clinical onset usually by 3 to 6 months. Common features are hypotonia, poor head control, hyperextension of legs and flexion of arms, gastrointestinal reflux, feeding difficulties, severe mental deficiency, developmental delay, and macrocephaly. Over time, an affected child will develop spasticity, seizures, optic atrophy, and blindness. Death usually occurs within the first decade of life. Treatment: There is no effective treatment for Canavan disease. Supportive care is aimed at providing the affected child with comfort.

53. AllRefer Health - Canavan Disease (Aspartoacylase Deficiency, Spongy Degeneratio canavan disease (Aspartoacylase Deficiency, Spongy Degeneration of the Brain) information center covers causes, prevention, symptoms, diagnosis, treatment, http://health.allrefer.com/health/canavan-disease-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Canavan Disease Canavan Disease Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain Definition Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age.

54. AllRefer Health - Canavan Disease Symptoms & Signs (Aspartoacylase Deficiency, S canavan disease (Aspartoacylase Deficiency, Spongy Degeneration of the Brain) information center covers Symptoms Signs. http://health.allrefer.com/health/canavan-disease-symptoms.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Canavan Disease : Symptoms of Canavan Disease Canavan Disease Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain A family history of Canavan disease Decreased muscle tone (hypotonia), especially of the neck muscles Abnormal posture with flexed arms and straight legs Feeding difficulties Nasal regurgitation Swallowing difficulties Reflux with vomiting Increasing head size ( macrocephaly Head lag Failure to meet milestones Seizures Severe mental retardation Blindness Death often by 18 months Previous Top Next Jump to another section Definition Canavan Disease Prevention Canavan Disease Treatment Canavan Disease Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Gastroesophageal Reflux in Infants Cranial CT Scan CSF Chemistry MRI of the Head ... Urine Chemistry Other Topics Aspartic Acid Autosomal Recessive Central Nervous System Enzyme ... White Matter of the Brain Review Date : 8/6/2003

55. ACMG Position Statement On Carrier Testing For Canavan Disease Position Statement on Carrier Testing for canavan disease. canavan disease is a serious incurable genetic disorder which causes mental retardation and is http://www.acmg.net/resources/policies/pol-003.asp

Position Statement on Carrier Testing for Canavan Disease Canavan Disease is a serious incurable genetic disorder which causes mental retardation and is often fatal in childhood. It is cased by a genetic abnormality which produces a deficiency of the enzyme aspartoacylase and is inherited in an autosomal recessive pattern. Like Tay-Sachs Disease, Canavan Disease occurs at a higher frequency in individuals with Ashkenazi Jewish ancestry, estimated to be 1/40. The screening test to identify individuals who are carriers is a DNA-based test that is performed by only a few specialized laboratories. If both reproductive partners have an Ashkenazi Jewish background, we recommend that carrier testing for Canavan Disease be offered before pregnancy. If only one partner is of Ashkenazi Jewish descent, she/he should be offered carrier testing and the couple should be counseled regarding the limitations and benefits of carrier testing and prenatal diagnosis for this situation. If a family member is affected, the proband's mutation(s) should be defined and the relatives should be offered screening for this mutation(s). This screening could be combined with screening for Tay-Sachs Disease as both disorders are more common in the same ethnic group.

56. Canavan Disease Medical Information canavan disease Information from Drugs.com. canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of http://www.drugs.com/enc/canavan_disease.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Canavan disease Injury Disease Nutrition Poison ... Z Canavan disease Definition Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain Alternative Names Spongy degeneration of the brain; Aspartoacylase deficiency Causes Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including poor muscle tone and lack of head control. Eventually, the child can develop feeding problems, seizures, and loss of vision.

57. Canavan Disease canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). http://www.bchealthguide.org/kbase/nord/nord157.htm

var hwPrint=1;var hwDocHWID="nord157";var hwDocTitle="Canavan Disease";var hwRank="1";var hwSectionHWID="nord157-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Canavan Disease Important It is possible that the main title of the report Canavan Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms ACY2 Deficiency Aminoacylase-2 Deficiency Aspartoacylase Deficiency Canavan's Leukodystrophy Canavan-Van Bogaert-Bertrand Disease CD Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Neuroaxis Van Bogaert-Bertrand Syndrome ASP Deficiency ASPA Deficiency Disorder Subdivisions None General Discussion Canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). Physician symptoms that appear in early infancy may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally large head (macrocephaly), and/ or irritability. Physical symptoms appear in early infancy and usually progress rapidly. Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. Canavan disease is inherited as an autosomal recessive genetic disorder. Resources Kennedy Krieger Institute 707 North Broadway Baltimore, MD 21205

58. Canavan Disease - [Support Group] This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29can.htm

var hwPrint=1;var hwDocHWID="shc29can";var hwDocTitle="Canavan Disease";var hwRank="1";var hwSectionHWID="shc29can-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Canavan Disease This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Canavan Foundation International. Founded 1992. Provides information and education for persons affected by Canavan's. Offers literature, phone support, conferences, and advocacy. Supports research. Online support available. WRITE: Canavan Foundation 450 West End Ave. New York, NY 10024 CALL: 212-873-4640 TDD: 1-877-422-6282 FAX: 212-873-7892 E-MAIL: info@canavanfoundation.org WEBSITE: www.canavanfoundation.org VERIFIED: 10/21/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

59. CANAVAN DISEASE: Contact A Family - For Families With Disabled Children: Informa Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/c14.html

printer friendly CANAVAN DISEASE home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Canavan disease is a rare genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies. The term leukodystrophy comes from the Greek words, 'leuko' meaning white and referring to the 'white matter' of the nervous system and 'dystrophy' meaning imperfect growth or development. In Canavan disease, there is widespread degeneration of the white matter in the brain leading to loss of sensory, motor and intellectual function. The white matter of the brain, otherwise known as myelin sheath, is a fatty covering which acts as an insulator around the nerve fibres of the brain. Myelin sheath is made up of a number of different chemicals. Canavan disease is caused by a deficiency in one of these chemicals and this affects the growth of the myelin sheath. Canavan disease is caused by changes (or mutations) in a gene on chromosome 17. There are different types of Canavan disease which include congenital, infantile, and late-onset form. Babies with Canavan disease appear normal in the first few months of life. However, in early infancy they begin to lose previously acquired skills including seeing and hearing. The head becomes progressively enlarged (megalencephaly) as the brain swells and the bones of the skull fail to fuse. Babies lose control of their muscles and the muscles supporting the head become floppy and weak (

60. Canavan Syndrome Canavan Syndrome Updated August 4, 2005. The Basics canavan disease Information Page National Institute of Neurological Disorders Stroke More information http://www.noah-health.org/en/bns/disorders/canavan/

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Brain and Nervous System Change text size: Canavan Syndrome Updated: August 4, 2005 The Basics Canavan Disease Information Page Diagnosis Screening: The First Line in Prevention Canavan Research Fund Information Resources Canavan Foundation Researched by NOAH Contributing Editor: NOAH Team NOAH Brain and Nervous System Specific Nervous System Disorders > Canavan Disease Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

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